Mutagenetix > Incidental Mutation

Incidental Mutation 'R6753:Itfg1'

530895

Institutional Source

Beutler Lab

Gene Symbol

Itfg1

Ensembl Gene

ENSMUSG00000031703

Gene Name

integrin alpha FG-GAP repeat containing 1

Synonyms

D8Wsu49e, 2310047C21Rik

MMRRC Submission

044870-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R6753 (G1)

Quality Score

152.008

Status

Validated

Chromosome

Chromosomal Location

85717578-85840921 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85835078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 142 (D142G)

Ref Sequence

ENSEMBL: ENSMUSP00000034140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034140]

AlphaFold

Q99KW9

Predicted Effect

probably benign
Transcript: ENSMUST00000034140
AA Change: D142G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000034140
Gene: ENSMUSG00000031703
AA Change: D142G

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
SCOP:d1m1xa4	46	232	5e-3	SMART
low complexity region	482	496	N/A	INTRINSIC
transmembrane domain	564	586	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 120,010,151	P1083S	probably benign	Het
Abcb5	T	A	12: 118,944,906	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,179,553	V67A	possibly damaging	Het
Agk	T	A	6: 40,368,570		probably null	Het
Akap10	A	T	11: 61,886,777	M586K	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Armc1	A	G	3: 19,144,398	F133L	possibly damaging	Het
Bank1	T	C	3: 136,093,308	E424G	probably damaging	Het
Cacna1a	A	G	8: 84,580,205	E1363G	probably damaging	Het
Cacna1d	C	A	14: 30,042,786	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,991,524	L606*	probably null	Het
Ccdc8	C	T	7: 16,996,637	Q684*	probably null	Het
Ces1b	T	A	8: 93,067,020	K314*	probably null	Het
Ces1e	T	A	8: 93,215,128	N238I	probably damaging	Het
Chd4	A	G	6: 125,114,300	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,222,979	D640E	probably damaging	Het
Col7a1	C	T	9: 108,958,128	T559I	unknown	Het
Comt	T	C	16: 18,408,021	K205R	probably benign	Het
Dbp	A	T	7: 45,708,404	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,456,130	T470A	possibly damaging	Het
Eml6	T	A	11: 29,754,987	D1519V	probably damaging	Het
Evpl	T	A	11: 116,237,906	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,563,339	I86N	probably damaging	Het
Fat3	C	T	9: 15,915,061	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,732,159	S301P	probably benign	Het
Gas2l1	C	T	11: 5,064,254	V69I	probably damaging	Het
Gm2042	T	A	12: 87,958,084	I107K	probably damaging	Het
Gucy1b1	T	C	3: 82,039,747	D385G	probably null	Het
Ints1	T	A	5: 139,765,175	E824D	probably damaging	Het
Jaml	A	G	9: 45,107,379	N359D	probably benign	Het
Kcnh7	T	A	2: 62,850,377	I289L	probably benign	Het
Klf12	G	A	14: 100,109,776	Q40*	probably null	Het
Mcm4	A	C	16: 15,629,362	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,867,358	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,928,374	V86M	probably damaging	Het
Mogs	T	C	6: 83,115,882	V101A	probably damaging	Het
Narf	T	A	11: 121,242,626	H84Q	probably benign	Het
Olfr987	C	A	2: 85,331,798	M33I	probably benign	Het
Otog	A	C	7: 46,249,071	E204D	probably benign	Het
Parp8	G	A	13: 116,895,115	H354Y	possibly damaging	Het
Pcnx	C	A	12: 81,964,480	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 109,624,449	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,589,663	E3995K	probably benign	Het
Prdm9	A	T	17: 15,544,956	Y521N	probably benign	Het
Prex2	A	G	1: 11,184,456	S1105G	probably damaging	Het
Prss35	T	A	9: 86,756,100	F308I	probably damaging	Het
Rab22a	C	T	2: 173,701,055	A167V	probably benign	Het
Rims2	A	G	15: 39,566,973	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,957,247	M253K	probably benign	Het
Ryr3	T	C	2: 112,652,610	D4269G	probably damaging	Het
Snx11	T	C	11: 96,769,906		probably benign	Het
Son	A	G	16: 91,657,188	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,747,785	R1880L	probably benign	Het
Sun1	G	A	5: 139,215,259		probably null	Het
Tprn	A	G	2: 25,264,038	R451G	probably benign	Het
Trbv30	T	A	6: 41,281,377	M1K	probably null	Het
Ttn	C	A	2: 76,738,221	G25697W	probably damaging	Het
Ubb	T	G	11: 62,551,527		probably null	Het
Unc13b	C	T	4: 43,239,331	R1038C	probably damaging	Het
Usp7	T	C	16: 8,696,911	M687V	probably benign	Het
Zfp160	G	A	17: 21,020,734	M21I	probably benign	Het
Zfp868	T	C	8: 69,612,096	N196S	probably benign	Het
Zufsp	A	T	10: 33,928,029	I483N	probably damaging	Het

Other mutations in Itfg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02579:Itfg1	APN	8	85780565	missense	possibly damaging	0.95
IGL02803:Itfg1	APN	8	85725511	splice site	probably null
R0368:Itfg1	UTSW	8	85764407	missense	probably damaging	1.00
R0755:Itfg1	UTSW	8	85726205	missense	possibly damaging	0.90
R1183:Itfg1	UTSW	8	85780523	missense	probably benign	0.04
R1529:Itfg1	UTSW	8	85810614	missense	probably benign	0.02
R1789:Itfg1	UTSW	8	85725512	critical splice donor site	probably null
R1953:Itfg1	UTSW	8	85831231	missense	probably benign	0.31
R2206:Itfg1	UTSW	8	85776198	missense	probably benign	0.17
R2207:Itfg1	UTSW	8	85776198	missense	probably benign	0.17
R2260:Itfg1	UTSW	8	85722677	missense	probably damaging	1.00
R2358:Itfg1	UTSW	8	85738129	missense	probably damaging	1.00
R2876:Itfg1	UTSW	8	85780510	splice site	probably benign
R2990:Itfg1	UTSW	8	85835049	missense	possibly damaging	0.82
R4484:Itfg1	UTSW	8	85726249	missense	probably damaging	1.00
R4762:Itfg1	UTSW	8	85732441	missense	possibly damaging	0.95
R5146:Itfg1	UTSW	8	85718868	makesense	probably null
R5796:Itfg1	UTSW	8	85718893	missense	probably damaging	1.00
R5805:Itfg1	UTSW	8	85766972	missense	probably benign	0.04
R6084:Itfg1	UTSW	8	85726170	missense	probably benign	0.01
R6187:Itfg1	UTSW	8	85836465	missense	probably damaging	1.00
R6319:Itfg1	UTSW	8	85840629	missense	probably damaging	1.00
R6463:Itfg1	UTSW	8	85736151	missense	probably benign	0.03
R6490:Itfg1	UTSW	8	85740301	missense	probably benign	0.08
R6492:Itfg1	UTSW	8	85740349	missense	probably benign	0.14
R6588:Itfg1	UTSW	8	85736130	missense	probably benign
R7489:Itfg1	UTSW	8	85767001	missense	probably damaging	1.00
R7665:Itfg1	UTSW	8	85764350	missense	probably benign
R7912:Itfg1	UTSW	8	85764280	missense	probably damaging	1.00
R7985:Itfg1	UTSW	8	85725568	missense	probably damaging	1.00
R8927:Itfg1	UTSW	8	85840791	unclassified	probably benign
R8928:Itfg1	UTSW	8	85840791	unclassified	probably benign
R9080:Itfg1	UTSW	8	85740245	missense	possibly damaging	0.82
R9456:Itfg1	UTSW	8	85838937	missense	probably benign	0.01
R9513:Itfg1	UTSW	8	85764246	missense	possibly damaging	0.92
R9577:Itfg1	UTSW	8	85776169	missense	probably benign	0.01
R9761:Itfg1	UTSW	8	85836402	missense	probably benign	0.00
X0067:Itfg1	UTSW	8	85840753	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTCCCTCATAGCAAATATGTTCAC -3'
(R):5'- TCCTTAGTGATAGCTATTGCAGG -3'

Sequencing Primer
(F):5'- TACTGGGGCATCAAGTCTTCACAG -3'
(R):5'- CTCTGTGTGAGTATGTCTACA -3'

Posted On

2018-08-01